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Nephrotic syndrome and mitochondrial disorders: Questions

  • Julie Bernardor
  • Camille Faudeux
  • Anabelle Chaussenot
  • Corinne Antignac
  • Alice Goldenberg
  • Marie Claire Gubler
  • Nicole Wagner
  • Etienne BérardEmail author
Clinical Quiz
  • 7 Downloads

In 2005, we reported on three patients in whom we suspected a nephrotic syndrome (NS) of mitochondrial origin [1]. Patients 2 and 3 died soon after birth due to a cardiogenic shock. The first patient was quite different (for detailed report, see ref. [1]).

The main features were as follows: He was born hypotrophic (2140 g, 49 cm), after an uneventful pregnancy from healthy non-consanguineous parents. The placenta weighed 800 g. During the first days of life, he exhibited clinical and biological signs of a moderate congenital cortico-resistant NS. Renal biopsy at 1 month of age showed diffuse mesangial proliferation and focal tubular dilatation. Search for classical etiologies of congenital NS failed to find any infectious origin, signs of a syndromic NS, or maternal pathologies. Genetic testing, made with classical techniques in 2006 (SCCP, Pr C. Antignac - Paris) only demonstrated a NPHS1mutation in the heterozygous state, also found in the asymptomatic father and considered a...

Keywords

Child Nephrotic syndrome Mitochondrial disorder Cardiomyopathy 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that there is no conflict of interest.

Reference

  1. 1.
    Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chrétien D, Lefrançois C, Geromel V, Rötig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Bérard E (2005) Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol 20:465–469CrossRefPubMedGoogle Scholar

Copyright information

© IPNA 2019

Authors and Affiliations

  1. 1.Unité de néphrologie pédiatriqueCHU de Nice - Hôpital Archet 2Nice Cedex 3France
  2. 2.Service de génétique médicaleCHU de Nice - Hôpital Archet 2Nice Cedex 3France
  3. 3.Laboratoire des maladies rénales héréditaires 1 - INSERM UMR S1163Institut ImagineParisFrance
  4. 4.Department of Genetics, Reference center for Hereditary Kidney Diseases (MARHEA), Assistance Publique - Hôpitaux de ParisNecker HospitalParisFrance
  5. 5.Unité de génétique cliniqueCHU de RouenRouen CedexFrance
  6. 6.CNRS, INSERM, iBVUniversité Côte d’AzurNiceFrance

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